OMIA 002601-9940 : Type I interferon receptor deficiency in Ovis aries
Category: Immune system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2022
Species-specific description: Davies et al. (2022): "One or both chains of the sheep IFNAR were disrupted in fetal fibroblast lines using CRISPR/Cas9 and 12 lambs were produced by somatic cell nuclear transfer (SCNT). ... Although many lambs have died from SCNT related problems or infections, one fertile IFNAR2 -/- ram lived to over 4 years of age, remained healthy, and produced more than 80 offspring. Interestingly, ZIKV infection studies failed to demonstrate a high level of susceptibility. Presumably, these sheep compensated for a lack of type I IFN signaling using the type II, IFN-gamma and type III, IFN-lambda pathways. ... A breeding herd of 32 IFNAR2 +/- ewes, which are fertile, has been developed for production of IFNAR2 -/- sheep for both infection and reproduction studies." This study involves genetically modified organisms (GMO).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IFNAR2||interferon (alpha, beta and omega) receptor 2||Ovis aries||1||NC_056054.1 (123014718..122979204)||IFNAR2||Homologene, Ensembl, NCBI gene|
|2022||Davies, C.J., Fan, Z., Morgado, K.P., Liu, Y., Regouski, M., Meng, Q., Thomas, A.J., Yun, S.I., Song, B.H., Frank, J.C., Perisse, I.V., Van Wettere, A., Lee, Y.M., Polejaeva, I.A. :>|
|Development and characterization of type I interferon receptor knockout sheep: A model for viral immunology and reproductive signaling. Front Genet 13:986316, 2022. Pubmed reference: 36246651. DOI: 10.3389/fgene.2022.986316.|
- Changed by Imke Tammen2 on 24 Nov 2022
- Created by Imke Tammen2 on 24 Nov 2022